Free Access
Issue
Med Sci (Paris)
Volume 33, Novembre 2017
Les Cahiers de Myologie
Page(s) 55 - 56
Section Essais Cliniques
DOI https://doi.org/10.1051/medsci/201733s111
Published online 15 November 2017
  1. Huizing M, Carrillo-Carrasco N, Malicdan MC, et al. GNE myopathy: new name and new mutation nomenclature. Neuromuscul Disord 2014 ; 24 : 387–389. [CrossRef] [PubMed] [Google Scholar]
  2. Urtizberea JA, Béhin A. Myopathie GNE. Les Cahiers de Myologie 2015 ; 31 : 20–27. [Google Scholar]
  3. Malicdan MC, Noguchi S, Nonaka I, et al. A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. Hum Mol Genet 2007 ; 16 : 2669–2682. [CrossRef] [PubMed] [Google Scholar]
  4. Malicdan MC, Noguchi S, Nishino I. A preclinical trial of sialic acid metabolites on distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy, a sugar-deficient myopathy: a review. Ther Adv Neurol Disord 2010 ; 3 : 127–135. [CrossRef] [PubMed] [Google Scholar]
  5. Sparks S, Rakocevic G, Joe G, et al. Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study. BMC Neurol 2007 ; 7 : 3. [PubMed] [Google Scholar]
  6. Argov Z, Caraco Y, Lau H, et al. Aceneuramic acid extended release administration maintains upper limb muscle strength in a 48-week study of subjects with GNE myopathy: results from a phase 2, randomized, controlled study. J Neuromuscul Dis 2016 ; 3 : 49–66. [CrossRef] [PubMed] [Google Scholar]
  7. Xu X, Wang AQ, Latham LL, et al. Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy. Mol Genet Metab 2017 ; 122 : 126–134. [CrossRef] [PubMed] [Google Scholar]
  8. Mitrani-Rosenbaum S, Yakovlev L, Becker Cohen M, et al. Sustained expression and safety of human GNE in normal mice after gene transfer based on AAV8 systemic delivery. Neuromuscul Disord 2012 ; 22 : 1015–1024. [CrossRef] [PubMed] [Google Scholar]
  9. Nemunaitis G, Jay CM, Maples PB, et al. Hereditary inclusion body myopathy: single patient response to intravenous dosing of GNE gene lipoplex. Hum Gene Ther 2011 ; 22 : 1331–1341. [CrossRef] [PubMed] [Google Scholar]
  10. Sela I, Milman Krentsis I, Shlomai Z, et al. The proteomic profile of hereditary inclusion body myopathy. PLoS One 2011 ; 6 : e16334. [CrossRef] [PubMed] [Google Scholar]

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